A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428313



Internal ID18278077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:99695998..100216834hg38UCSC Ensembl
Innerchr15:100236203..100757039hg19UCSC Ensembl
Innerchr15:98053726..98574562hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38520837
hg19520837
hg18520837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452846, nssv452845
SamplesHGDP01094, HGDP00986
Known GenesADAMTS17, DNM1P46, LYSMD4, MEF2A
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428313
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer